ClinVar for MedGen (Select 1781114) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25823281.	NM_001035.3(RYR2):c.14132G>A (p.Gly4711Glu) GRCh37: Chr1:237965197 GRCh38: Chr1:237801897	RYR2	G4711E	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 23, 2023)	criteria provided, single submitter
Select item 25765902.	NM_001035.3(RYR2):c.14801C>A (p.Thr4934Lys) GRCh37: Chr1:237994858 GRCh38: Chr1:237831558	RYR2	T4934K	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jul 21, 2023)	criteria provided, single submitter
Select item 25017343.	NM_001035.3(RYR2):c.9165T>G (p.Ser3055Arg) GRCh37: Chr1:237863565 GRCh38: Chr1:237700265	RYR2	S3055R	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 24422004.	NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys) GRCh37: Chr1:237993925 GRCh38: Chr1:237830625	RYR2	N4917K	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 24418025.	NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe) GRCh37: Chr1:237941995 GRCh38: Chr1:237778695	RYR2	L3935F	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Nov 3, 2022)	criteria provided, single submitter
Select item 17625716.	NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met) GRCh37: Chr1:237823314 GRCh38: Chr1:237660014	RYR2	I2746M	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype	Conflicting interpretations of pathogenicity (Aug 22, 2022)	criteria provided, conflicting interpretations
Select item 16965447.	NM_001035.3(RYR2):c.8437-1390C>T GRCh37: Chr1:237828422 GRCh38: Chr1:237665122	RYR2		Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 16, 2021)	criteria provided, single submitter
Select item 16913058.	NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu) GRCh37: Chr1:237794770 GRCh38: Chr1:237631470	RYR2	M2162L	Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 16779549.	NM_001035.3(RYR2):c.808C>T (p.His270Tyr) GRCh37: Chr1:237580383 GRCh38: Chr1:237417083	RYR2	H270Y	not provided, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167764410.	NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr) GRCh37: Chr1:237995886 GRCh38: Chr1:237832586	RYR2	C4948Y	not provided, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 158831311.	NM_001035.3(RYR2):c.1320G>A (p.Ala440=) GRCh37: Chr1:237617718 GRCh38: Chr1:237454418	RYR2		Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Likely benign (Jul 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149450712.	NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val) GRCh37: Chr1:237791262 GRCh38: Chr1:237627962	RYR2	I2108V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149171913.	NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile) GRCh37: Chr1:237870361 GRCh38: Chr1:237707061	RYR2	M3231I	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148058114.	NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu) GRCh37: Chr1:237935377 GRCh38: Chr1:237772077	RYR2	V3875L	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Likely pathogenic (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146911915.	NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val) GRCh37: Chr1:237961460 GRCh38: Chr1:237798160	RYR2	L4694V	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145083116.	NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp) GRCh37: Chr1:237817689 GRCh38: Chr1:237654389	RYR2	G2647D	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144196517.	NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly) GRCh37: Chr1:237890498 GRCh38: Chr1:237727198	RYR2	R3613G	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 144053818.	NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys) GRCh37: Chr1:237831211 GRCh38: Chr1:237667911	RYR2	Y2848C	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143688819.	NM_001035.3(RYR2):c.596G>T (p.Gly199Val) GRCh37: Chr1:237550600 GRCh38: Chr1:237387300	RYR2	G199V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 143463020.	NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter) GRCh37: Chr1:237947873 GRCh38: Chr1:237784573	LOC126806068, RYR2	Y4287*	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142810921.	NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu) GRCh37: Chr1:237870455 GRCh38: Chr1:237707155	RYR2	M3263L	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140984422.	NM_001035.3(RYR2):c.2641A>G (p.Ile881Val) GRCh37: Chr1:237670037 GRCh38: Chr1:237506737	RYR2	I881V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140467423.	NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg) GRCh37: Chr1:237961364 GRCh38: Chr1:237798064	RYR2	G4662R	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Nov 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 139713224.	NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala) GRCh37: Chr1:237802324 GRCh38: Chr1:237639024	RYR2	V2313A	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135996725.	NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr) GRCh37: Chr1:237538024 GRCh38: Chr1:237374724	RYR2	C131Y	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134947626.	NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val) GRCh37: Chr1:237756794 GRCh38: Chr1:237593494	RYR2	I1432V	Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133260827.	NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) GRCh37: Chr1:237801775 GRCh38: Chr1:237638475	RYR2	F2304S	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133251728.	NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) GRCh37: Chr1:237955575 GRCh38: Chr1:237792275	RYR2		Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Likely benign (Jul 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133223629.	NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys) GRCh37: Chr1:237947676 GRCh38: Chr1:237784376	LOC126806068, RYR2	E4222K	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132663030.	NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp) GRCh37: Chr1:237729956 GRCh38: Chr1:237566656	RYR2	Y1102D	not provided, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131571931.	NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) GRCh37: Chr1:237778090 GRCh38: Chr1:237614790	RYR2	R1888W	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, not provided, Cardiovascular phenotype	Uncertain significance (Oct 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117495032.	NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr) GRCh37: Chr1:237824177 GRCh38: Chr1:237660877	RYR2	I2789T	not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117217833.	NM_001035.3(RYR2):c.824G>A (p.Trp275Ter) GRCh37: Chr1:237580399 GRCh38: Chr1:237417099	RYR2	W275*	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117166834.	NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu) GRCh37: Chr1:237730066 GRCh38: Chr1:237566766	RYR2	D1138E	Cardiomyopathy, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 111995135.	NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile) GRCh37: Chr1:237947599 GRCh38: Chr1:237784299	LOC126806068, RYR2	T4196I	Catecholaminergic polymorphic ventricular tachycardia 1	Likely pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 111995036.	NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu) GRCh37: Chr1:237946995 GRCh38: Chr1:237783695	RYR2	I3995L	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Pathogenic (Jan 13, 2022)	no assertion criteria provided
Select item 106401937.	NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile) GRCh37: Chr1:237870354 GRCh38: Chr1:237707054	RYR2	T3229I	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 106053938.	NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val) GRCh37: Chr1:237777739 GRCh38: Chr1:237614439	RYR2	I1771V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Conflicting interpretations of pathogenicity (Feb 15, 2022)	criteria provided, conflicting interpretations
Select item 104642939.	NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) GRCh37: Chr1:237801675 GRCh38: Chr1:237638375	RYR2	G2271C	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104462540.	NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp) GRCh37: Chr1:237604656 GRCh38: Chr1:237441356	RYR2	G348D	not provided, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104323641.	NM_001035.3(RYR2):c.995G>A (p.Arg332Gln) GRCh37: Chr1:237586538 GRCh38: Chr1:237423238	RYR2	R332Q	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103690642.	NM_001035.3(RYR2):c.9703A>G (p.Met3235Val) GRCh37: Chr1:237870371 GRCh38: Chr1:237707071	RYR2	M3235V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102159543.	NM_001035.3(RYR2):c.6817G>A (p.Gly2273Arg) GRCh37: Chr1:237801681 GRCh38: Chr1:237638381	RYR2	G2273R	not provided, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101976744.	NM_001035.3(RYR2):c.4910+3C>G GRCh37: Chr1:237774291 GRCh38: Chr1:237610991	RYR2		Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101464845.	NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly) GRCh37: Chr1:237947877 GRCh38: Chr1:237784577	LOC126806068, RYR2	S4289G	Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101398946.	NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg) GRCh37: Chr1:237666608 GRCh38: Chr1:237503308	RYR2	G806R	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100324547.	NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) GRCh37: Chr1:237947650 GRCh38: Chr1:237784350	LOC126806068, RYR2	E4213G	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100288148.	NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro) GRCh37: Chr1:237886485 GRCh38: Chr1:237723185	RYR2	T3538P	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100176849.	NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys) GRCh37: Chr1:237758818 GRCh38: Chr1:237595518	RYR2	Y1486C	Cardiovascular phenotype, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100062750.	NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr) GRCh37: Chr1:237617714 GRCh38: Chr1:237454414	RYR2	K439T	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96964251.	NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) GRCh37: Chr1:237955456 GRCh38: Chr1:237792156	RYR2	S4539R	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95986652.	NM_001035.3(RYR2):c.1179G>A (p.Met393Ile) GRCh37: Chr1:237608709 GRCh38: Chr1:237445409	RYR2	M393I	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 94933353.	NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys) GRCh37: Chr1:237778099 GRCh38: Chr1:237614799	RYR2	E1891K	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 94188054.	NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val) GRCh37: Chr1:237817644 GRCh38: Chr1:237654344	RYR2	A2632V	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93517455.	NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn) GRCh37: Chr1:237666737 GRCh38: Chr1:237503437	RYR2	D849N	Cardiovascular phenotype, not provided, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Aug 22, 2023)	criteria provided, conflicting interpretations
Select item 93345756.	NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) GRCh37: Chr1:237433828 GRCh38: Chr1:237270528	RYR2	T27S	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92825857.	NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg) GRCh37: Chr1:237729896 GRCh38: Chr1:237566596	RYR2	G1082R	Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jun 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92771258.	NM_001035.3(RYR2):c.12920G>A (p.Arg4307His) GRCh37: Chr1:237947932 GRCh38: Chr1:237784632	LOC126806068, RYR2	R4307H	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 92766059.	NM_001035.3(RYR2):c.14217dup (p.Ala4740fs) GRCh37: Chr1:237969493-237969494 GRCh38: Chr1:237806193-237806194	RYR2	A4740fs	Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92749860.	NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met) GRCh37: Chr1:237713944 GRCh38: Chr1:237550644	RYR2	T1056M	Cardiovascular phenotype, not provided, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jan 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92747361.	NM_001035.3(RYR2):c.13630G>A (p.Val4544Met) GRCh37: Chr1:237955471 GRCh38: Chr1:237792171	RYR2	V4544M	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92733262.	NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr) GRCh37: Chr1:237886536 GRCh38: Chr1:237723236	RYR2	A3555T	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Nov 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92691963.	NM_001035.3(RYR2):c.2275T>G (p.Leu759Val) GRCh37: Chr1:237664082 GRCh38: Chr1:237500782	RYR2	L759V	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92639464.	NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala) GRCh37: Chr1:237811902 GRCh38: Chr1:237648602	RYR2	S2501A	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92622765.	NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly) GRCh37: Chr1:237666651 GRCh38: Chr1:237503351	RYR2	A820G	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92613166.	NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu) GRCh37: Chr1:237758892 GRCh38: Chr1:237595592	RYR2	V1511L	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Sep 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92603367.	NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn) GRCh37: Chr1:237801713 GRCh38: Chr1:237638413	RYR2	K2283N	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jul 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92575068.	NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys) GRCh37: Chr1:237777937 GRCh38: Chr1:237614637	RYR2	E1837K	Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (May 31, 2023)	criteria provided, conflicting interpretations
Select item 92549469.	NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) GRCh37: Chr1:237791173 GRCh38: Chr1:237627873	RYR2	P2078L	Cardiomyopathy, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92536770.	NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg) GRCh37: Chr1:237948073 GRCh38: Chr1:237784773	LOC126806068, RYR2	L4354R	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92487771.	NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala) GRCh37: Chr1:237619979 GRCh38: Chr1:237456679	RYR2	G519A	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Aug 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92371772.	NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr) GRCh37: Chr1:237777953 GRCh38: Chr1:237614653	RYR2	I1842T	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy	Uncertain significance (Nov 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92354973.	NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg) GRCh37: Chr1:237656290 GRCh38: Chr1:237492990	RYR2	G622R	Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy	Uncertain significance (May 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92352074.	NM_001035.3(RYR2):c.1964T>C (p.Met655Thr) GRCh37: Chr1:237659813 GRCh38: Chr1:237496513	RYR2	M655T	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92294875.	NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp) GRCh37: Chr1:237947204 GRCh38: Chr1:237783904	RYR2	E4064D	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92294476.	NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) GRCh37: Chr1:237965216 GRCh38: Chr1:237801916	RYR2		Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Apr 1, 2022)	criteria provided, conflicting interpretations
Select item 92251577.	NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln) GRCh37: Chr1:237947782 GRCh38: Chr1:237784482	LOC126806068, RYR2	R4257Q	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92223878.	NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val) GRCh37: Chr1:237787065 GRCh38: Chr1:237623765	RYR2	I1973V	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Aug 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92109479.	NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) GRCh37: Chr1:237813234 GRCh38: Chr1:237649934	RYR2	V2524I	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jun 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92084980.	NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) GRCh37: Chr1:237881796 GRCh38: Chr1:237718496	RYR2	R3510L	Cardiomyopathy, not specified, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91902481.	NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala) GRCh37: Chr1:237778028 GRCh38: Chr1:237614728	RYR2	E1867A	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy	Uncertain significance (Sep 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91894282.	NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys) GRCh37: Chr1:237780691 GRCh38: Chr1:237617391	RYR2	R1941C	Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91885583.	NM_001035.3(RYR2):c.4161-5T>C GRCh37: Chr1:237755034 GRCh38: Chr1:237591734	RYR2		Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91873084.	NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) GRCh37: Chr1:237961442 GRCh38: Chr1:237798142	RYR2	P4688A	Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Cardiomyopathy	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91872985.	NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) GRCh37: Chr1:237619982 GRCh38: Chr1:237456682	RYR2	R520L	Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Uncertain significance (Jul 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91869086.	NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn) GRCh37: Chr1:237664160 GRCh38: Chr1:237500860	RYR2	D785N	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 91839587.	NM_001035.3(RYR2):c.7750A>G (p.Met2584Val) GRCh37: Chr1:237814727 GRCh38: Chr1:237651427	RYR2	M2584V	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 91832688.	NM_001035.3(RYR2):c.2617G>A (p.Val873Met) GRCh37: Chr1:237670013 GRCh38: Chr1:237506713	RYR2	V873M	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87635489.	NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) GRCh37: Chr1:237774081 GRCh38: Chr1:237610781	RYR2	A1568V	Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87008290.	NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg) GRCh37: Chr1:237919622 GRCh38: Chr1:237756322	RYR2	Q3727R	Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia	Uncertain significance (Sep 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86274691.	NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser) GRCh37: Chr1:237777970 GRCh38: Chr1:237614670	RYR2	P1848S	not provided, Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85260592.	NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala) GRCh37: Chr1:237958612 GRCh38: Chr1:237795312	RYR2	D4646A	Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84883093.	NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr) GRCh37: Chr1:237754063 GRCh38: Chr1:237590763	LOC126806067, RYR2	A1311T	Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84731694.	NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) GRCh37: Chr1:237880534 GRCh38: Chr1:237717234	RYR2	R3454C	Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Dec 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 84634195.	NM_001035.3(RYR2):c.1241G>A (p.Arg414His) GRCh37: Chr1:237608771 GRCh38: Chr1:237445471	RYR2	R414H	not specified, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Sep 24, 2022)	criteria provided, conflicting interpretations
Select item 83932596.	NM_001035.3(RYR2):c.1115T>A (p.Leu372His) GRCh37: Chr1:237604728 GRCh38: Chr1:237441428	RYR2	L372H	Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1, not provided	Uncertain significance (Apr 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83796097.	NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu) GRCh37: Chr1:237756794 GRCh38: Chr1:237593494	RYR2	I1432L	Cardiovascular phenotype, Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Conflicting interpretations of pathogenicity (Jun 15, 2023)	criteria provided, conflicting interpretations
Select item 83765398.	NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) GRCh37: Chr1:237838065 GRCh38: Chr1:237674765	RYR2	I2917V	Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83483599.	NM_001035.3(RYR2):c.294+3A>G GRCh37: Chr1:237519288 GRCh38: Chr1:237355988	RYR2		Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 834145100.	NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu) GRCh37: Chr1:237870294 GRCh38: Chr1:237706994	RYR2	P3209L	Arrhythmogenic right ventricular dysplasia 2, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts

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